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Incorporating a new disease in the newborn screening programs in Europe: the spinal muscular atrophy case study

Longitudinal biomarker evaluation in Fabry disease patients receiving lentivirus-mediated gene therapy

The European joint programme on rare diseases: building the rare diseases research ecosystem

Newborn screening in Mexico and Latin America: present and future

The division of rare diseases research innovation at the national center for advancing translational sciences, NIH: mission, history, and current research activities

Long-term treatment with insulin-like growth factor-1 in Phelan-McDermid syndrome: a case report

Biomarkers in anderson-Fabry disease: what should we use in the clinical practice?

Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative

The inflammatory pathogenetic pathways of Fabry nephropathy

Gastrointestinal involvement in Fabry disease

Cerebrovascular disorders and Fabry disease

Paradox of possibilities: the rare landscape in the Asia Pacific Region